regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE10A_chr6_165322289_165668241 | 165422300 | CGCATACA others(41): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0002g0054others(7): Show | 10 | 222 | 0.0451 | -48 | c.165 others(67): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 10/21 | chr6 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177660084 | TTTCTTTC others(41): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0153 | 1 | 170 | 0.0059 | -48 | c.264 others(67): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177853652 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02615.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0026a0001c0003t0058a0001c0005t0026others(1): Show | a0001c0001t0026g0067a0001c0003t0058g0066a0001c0005t0026g0019others(1): Show | 4 | 170 | 0.0235 | -48 | c.136 others(69): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177945789 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0140 | 1 | 170 | 0.0059 | -48 | c.107 others(69): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135934966 | TATTTCTC others(41): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 142 | 0.0070 | -48 | c.22- others(65): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42670372 | ACACACAT others(41): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(116): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0046a0001c0001t0001g0047others(116): Show | 119 | 324 | 0.3673 | -48 | c.70- others(65): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDGFB_chr22_39218359_39249982 | 39247875 | AAAAAAAA others(41): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 386 | 0.0026 | -48 | c.-39 others(59): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2894 | chr22 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 103985078 | TATTTATT others(41): Show |
T | intron_variant | MODIFIER | NA18973.hp1 NA18990.hp2 NA19012.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0002t0001 | a0001c0001t0002g0049a0001c0001t0015g0165a0001c0002t0001g0075 | 3 | 200 | 0.0150 | -48 | c.510 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104118805 | ATATAATA others(41): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0002g0009a0001c0001t0002g0020a0001c0001t0002g0035others(60): Show | 63 | 200 | 0.3150 | -48 | c.124 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402614 | TATATACT others(41): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02897.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0084a0001c0001t0001g0119a0001c0001t0002g0155others(1): Show | 4 | 206 | 0.0194 | -48 | c.844 others(69): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX26_chr22_18072990_18110396 | 18106278 | TGTGGTTC others(41): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0001c0001t0048a0001c0001t0182others(2): Show | a0001c0001t0016g0044a0001c0001t0016g0144a0001c0001t0016g0146others(4): Show | 9 | 398 | 0.0226 | -48 | c.*18 others(61): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 883 | chr22 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18106457 | CGAGAGCT others(41): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0001 | 1 | 398 | 0.0025 | -48 | c.*18 others(61): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 1062 | chr22 | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44331396 | TGGGAGGC others(41): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 | 1 | 392 | 0.0026 | -48 | c.*45 others(59): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 4024 | chr21 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084693 | CAGTCCTC others(41): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00738.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(13): Show | a0001c0001t0002g0006a0001c0001t0002g0201a0001c0001t0002g0204others(28): Show | 31 | 402 | 0.0771 | -48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3084727 | GCCCCTCC others(41): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0190 | 1 | 402 | 0.0025 | -48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3084945 | TTCCCTCC others(41): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0023 | a0001c0023t0019 | a0001c0023t0019g0254 | 1 | 402 | 0.0025 | -48 | c.186 others(65): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGAP3_chr17_39666122_39693057 | 39691927 | ACATATAC others(41): Show |
A | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 376 | 0.0027 | -48 | c.-39 others(59): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3871 | chr17 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41738143 | TGCATATA others(41): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 464 | 0.0022 | -48 | c.916 others(63): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482596 | CTTCCTTC others(41): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0041 | 1 | 382 | 0.0026 | -48 | c.-32 others(59): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3096 | chr19 | TogoVar | ||||||
PGP_chr16_2206593_2219840 | 2216077 | TACAGGCG others(41): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 452 | 0.0022 | -48 | c.-13 others(59): Show |
PGP | ENSG00000184207.9 | transcript | ENST00000333503.8 | protein_coding | 1238 | chr16 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064570 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0088a0001c0001t0002g0009a0001c0001t0002g0030others(2): Show | 5 | 108 | 0.0463 | -48 | c.415 others(67): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143771146 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0094 | a0001c0003t0094g0155 | 1 | 310 | 0.0032 | -48 | c.123 others(67): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHKG1_chr7_56075295_56097952 | 56087985 | CCGTGTGA others(41): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0049 | 2 | 418 | 0.0048 | -48 | c.84- others(61): Show |
PHKG1 | ENSG00000164776.11 | transcript | ENST00000297373.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
PHKG1_chr7_56075295_56097952 | 56095817 | ATTACAGG others(41): Show |
A | upstream_gene_variant | MODIFIER | NA18971.hp2 NA19083.hp1 NA19084.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0010a0001c0003t0002g0047a0001c0003t0002g0140 | 3 | 418 | 0.0072 | -48 | c.-30 others(59): Show |
PHKG1 | ENSG00000164776.11 | transcript | ENST00000297373.7 | protein_coding | 2866 | chr7 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30748999 | GGGTGGTG others(41): Show |
G | intron_variant | MODIFIER | HG02129.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038a0001c0001t0002g0061 | 2 | 264 | 0.0076 | -48 | c.95+ others(61): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG2_chr16_30743425_30766176 | 30749046 | GTGGTGGT others(41): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG03486.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0008 | a0001c0001t0008g0020a0002c0002t0008g0020 | 2 | 264 | 0.0076 | -48 | c.95+ others(61): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG2_chr16_30743425_30766176 | 30749076 | GTGGTGGT others(41): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0055a0001c0001t0003g0056 | 2 | 264 | 0.0076 | -48 | c.95+ others(61): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(41): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01516.hp1 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0009others(2): Show | a0001c0001t0001g0302a0001c0001t0001g0304a0001c0001t0011g0205others(4): Show | 7 | 350 | 0.0200 | -48 | c.*51 others(59): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229139009 | AAGAAAGA others(41): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 256 | 0.0039 | -48 | c.177 others(67): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10720397 | GTGTGTGT others(41): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0020 | a0020c0066 | a0020c0066t0002 | a0020c0066t0002g0119 | 1 | 158 | 0.0063 | -48 | c.503 others(67): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10795314 | ATATTTTA others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG02486.hp2 others(2): Show |
a0002a0008a0010others(1): Show | a0002c0001a0008c0034a0010c0014others(1): Show | a0002c0001t0001a0002c0001t0005a0008c0034t0002others(2): Show | a0002c0001t0001g0139a0002c0001t0005g0094a0008c0034t0002g0069others(2): Show | 5 | 158 | 0.0317 | -48 | c.152 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 12/55 | chr18 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 579427 | CCTAGAGG others(41): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0048 | 1 | 408 | 0.0025 | -48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIGQ_chr16_564968_589109 | 579526 | AGAGGTGC others(41): Show |
A | intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0131 | 1 | 408 | 0.0025 | -48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIGQ_chr16_564968_589109 | 579574 | TGAGGTGC others(41): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(97): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0022a0002c0001others(4): Show | a0001c0002t0002a0001c0022t0002a0002c0001t0001others(4): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(63): Show | 100 | 408 | 0.2451 | -48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIGQ_chr16_564968_589109 | 579646 | AGAGGTGC others(41): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02698.hp1 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0006 | a0003c0003t0003g0072a0003c0003t0006g0077 | 2 | 408 | 0.0049 | -48 | c.133 others(65): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIGU_chr20_34555542_34682092 | 34631741 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 320 | 0.0031 | -48 | c.529 others(65): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIK3C2A_chr11_17081575_17212986 | 17181621 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02027.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0031a0001c0003t0004g0097 | 2 | 342 | 0.0059 | -48 | c.-65 others(67): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18650702 | GTGTATAT others(41): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01884.hp2 HG02055.hp2 |
a0001a0002a0007 | a0001c0037a0002c0020a0007c0007 | a0001c0037t0002a0002c0020t0001a0007c0007t0002 | a0001c0037t0002g0173a0002c0020t0001g0029a0007c0007t0002g0005 | 3 | 176 | 0.0171 | -48 | c.*26 others(59): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2287 | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18650704 | GTATATAT others(41): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 HG03098.hp2 HG03540.hp2 |
a0003a0009a0019 | a0003c0002a0009c0046a0019c0030 | a0003c0002t0001a0009c0046t0001a0019c0030t0002 | a0003c0002t0001g0122a0009c0046t0001g0042a0019c0030t0002g0175 | 3 | 176 | 0.0171 | -48 | c.*26 others(59): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2289 | chr12 | TogoVar | ||||||
PIK3C3_chr18_41950234_42092830 | 42054126 | GTATATAT others(41): Show |
G | intron_variant | MODIFIER | HG02056.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021a0001c0001t0004g0022 | 2 | 340 | 0.0059 | -48 | c.226 others(67): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PIP4K2A_chr10_22529854_22719578 | 22664106 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0168a0001c0007t0002g0169 | 2 | 206 | 0.0097 | -48 | c.144 others(67): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67674522 | ATTTAGGA others(41): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0079a0001c0001t0001g0082a0001c0001t0001g0086others(170): Show | 173 | 218 | 0.7936 | -48 | c.619 others(63): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIWIL2_chr8_22270316_22362568 | 22361090 | AGAAGGAA others(41): Show |
A | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 296 | 0.0034 | -48 | c.*55 others(59): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 3523 | chr8 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109341776 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG01192.hp1 NA18998.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0110a0003c0003t0002g0299 | 2 | 346 | 0.0058 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109341787 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG00741.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0002a0003c0003t0020others(1): Show | a0001c0001t0003g0008a0003c0003t0002g0058a0003c0003t0002g0060others(5): Show | 8 | 346 | 0.0231 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109341825 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02148.hp2 HG02602.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0051a0003c0003t0002g0063a0003c0003t0002g0078others(2): Show | 5 | 346 | 0.0145 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109342056 | GTCAGCCC others(41): Show |
G | intron_variant | MODIFIER | NA18956.hp1 NA18998.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0110a0003c0003t0002g0302 | 2 | 346 | 0.0058 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109342099 | GGGGATGT others(41): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01346.hp1 HG01981.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0020 | a0003c0003t0002g0053a0003c0003t0002g0058a0003c0003t0002g0084others(4): Show | 7 | 346 | 0.0202 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109342474 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0065 | 1 | 346 | 0.0029 | -48 | c.200 others(67): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100315001 | AGGAAGGA others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG02080.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0070a0001c0001t0001g0100 | 3 | 306 | 0.0098 | -48 | c.349 others(67): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar |